Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92813286C>A , CM000675.2:g.92813286C>A | GRCh38 |
| NC_000013.10:g.93465539C>A , CM000675.1:g.93465539C>A | GRCh37 |
| NC_000013.9:g.92263540C>A | NCBI36 |
| NG_009370.1:g.1419605C>A | |
| NG_009370.2:g.1419606C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004466.6:c.1562-52996C>A MANE Select | NP_004457.1:n.1562-52996C>A |
| ENST00000377067.9:c.1562-52996C>A MANE Select | ENSP00000366267.3:n.1562-52996C>A |
| NM_004466.5:c.1562-52996C>A | NP_004457.1:n.1562-52996C>A |
| ENST00000377067.8:c.1562-52996C>A | ENSP00000366267.3:n.1562-52996C>A |